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Case Reports
. 2002 Dec;22(12):1071-5.
doi: 10.1002/pd.470.

Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation

Kazunori Ueno  1 , Mamoru Tanaka, Kei Miyakoshi, Chen Zhao, Hiroshi Shinmoto, Gen Nishimura, Yasunori Yoshimura
Affiliations
Case Reports

Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation

Kazunori Ueno et al. Prenat Diagn. 2002 Dec.

Abstract

We describe prenatal diagnosis in a male fetus at 21 weeks of gestation with atelosteogenesis type I (AO I). Fetal ultrasonography (US) revealed absent or deficient ossification of the posterior neural arches of the thoracic spine, humeri, radii, ulnae, fibulae, and short tubular bones other than the distal phalanges, in addition to extremely short, thick femora. Fetal magnetic resonance imaging (MRI) using an ultrafast imaging sequence depicted dysmorphic features, pulmonary hypoplasia, and large cisterna magna. Postmortem radiographs warranted a diagnosis of AO I. Autopsy corroborated not only pulmonary hypoplasia but also laryngeal stenosis. The chondro-osseous histological findings were consistent with those of AO I. Meticulous evaluation using fetal US and MRI permits a definitive prenatal diagnosis of AO I to be made.

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